L28F (p.Leu28Phe) variant of NLRP1 (Q9C000)
L28F (p.Leu28Phe) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- rs980793433
- ClinGen CA287293723
- ClinVar RCV002610426
- ClinVar RCV005445795
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 15.20
- PolyPhen-2 0.11
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)